Welcome to the world of Fragile X

“Your blood work came back showing that you’re a carrier for Fragile X. We have set up an appointment for you on Monday with a genetic counselor. We advise you to stay off the internet.”

Let’s put aside the ethics of the OB’s office leaving me a VOICE MAIL with this news.

What really bothers me is that when I miscarried, the genetic counseling appointment was immediately cancelled. Not rescheduled… cancelled! And no effort was made to impress upon me the importance of getting more information. In fact, when I asked my OB if Fragile X could have been the cause of my miscarriage, she gave me a dumb look and said she didn’t know.

Despite having read a little bit about Fragile X online, we didn’t fully understand that we had a 50% chance of passing on the gene in some form. Kyle and I had already started TTC again. It was Claire who first clued me in. She’d mentioned it to one of her med school friends, a reproductive endocrinologist, who replied, “Oh, that’s serious! She should do something about that.”

I’ll admit, I didn’t believe her at first. The OB wasn’t worried about it, so why should we be? In my head I’d worked out some sort of imaginary odds that made Fragile X similar to Down Syndrome. I wasn’t an older mother, so that kind of thing seemed like such a long shot. Thank goodness Claire kept on my case.

Dr. Avery, the wonderful RE who took us on, explained some of the stats and repercussions.

Being female, I have 2 X chromosomes. In my case, one X is healthy, and the other has one faulty gene, the FMR1 gene. (I think of it like apples… I have two great apples, but one of them has a small bruise on it.)

When the faulty gene is passed on, it will either stay the same level of faulty (like me) or get much, much worse (as in, the bruise on the apple becomes a lot more obvious and pervasive). The baby could be severely mentally retarded, or if the gene gets completely out of control, the fetus isn’t able to live. This gene is like a ticking bomb that could go off in any future generation without warning.

That was most of what Dr. Avery knew, so at this point she referred us to a genetic counselor. I’m always glad when a medical professional isn’t too proud to admit the boundaries of her knowledge. In fact, to keep this blog post from getting any drier, just google the National Fragile X Foundation if you want to read more.

From what we learned from the genetic counselor and through my own experience since then, being a carrier of Fragile X has its own complications. Luckily for me, my Fragile X gene hasn’t affected my mental acuity or my ability to function in the world. However, I have seen reproductive issues. Although I was only 33 when I first had my hormones tested, the levels looked pre-menopausal. I ovulate every month, but the egg quality is poor, resulting in recurrent miscarriage and difficulty producing strong embryos for IVF.

Our options? We were given five:

1. Continue to conceive normally and test using CVS at 10-12 weeks. Terminate the pregnancy if the fetus tests positive for Fragile X; or, prepare for a special needs child
2. Preimplantation Genetic Diagnosis (PGD). Using IVF locally and a PGD lab in Michigan, embryos are tested for the gene before they’re transferred to the uterus.
3. Donated egg
4. Embryo Adoption
5. Adoption

FML. Welcome to the world of Fragile X.


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